WormBase Tree Display for Gene: WBGene00016507

WBGene00016507 SMap: S_parent: Sequence: C37H5
  Identity: Version: 2
    Name: CGC_name: abhd-5.2 Person_evidence: WBPerson14710
      Sequence_name: C37H5.3
      Molecular_name: C37H5.3a
        C37H5.3a.1
        CE08627
        C37H5.3b
        CE32824
        C37H5.3b.1
      Other_name: cgi-58 Person_evidence: WBPerson542
        C37H5.m Curator_confirmed: WBPerson1983
          Remark: Old cosmid naming mapped via unique overlapping PCR_product on CDSs
        CELE_C37H5.3 Accession_evidence: NDB BX284605
      Public_name: abhd-5.2
    DB_info: Database (11)
    Species: Caenorhabditis elegans
    History: Version_change: 1 28 May 2004 13:30:57 WBPerson1971 Event: Imported: Initial conversion from CDS class of stlace from WS125
        2 17 Jul 2015 12:44:10 WBPerson2970 Name_change: Other_name: cgi-58
    Status: Live
  Gene_info: Biotype: SO:0001217
    Gene_class: abhd
    Allele (47)
    Strain: WBStrain00033061
    RNASeq_FPKM (74)
    GO_annotation (11)
    Ortholog (38)
    Paralog (14)
    Structured_description: Automated_description: Predicted to enable carboxylic ester hydrolase activity and lysophosphatidic acid acyltransferase activity. Predicted to be involved in lipid homeostasis and phosphatidic acid biosynthetic process. Predicted to be located in lipid droplet and mitochondrion. Expressed in hypodermis. Used to study Chanarin-Dorfman syndrome. Human ortholog(s) of this gene implicated in Chanarin-Dorfman syndrome; autosomal recessive congenital ichthyosis 1; and colon adenocarcinoma. Is an ortholog of human ABHD4 (abhydrolase domain containing 4, N-acyl phospholipase B) and ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). Paper_evidence: WBPaper00065943
          Curator_confirmed: WBPerson324
            WBPerson37462
          Inferred_automatically: This description was generated automatically by a script based on data from the WS291 version of WormBase
          Date_last_updated: 29 Nov 2023 00:00:00
  Disease_info: Experimental_model: DOID:0050729 Homo sapiens Paper_evidence: WBPaper00046951
          Accession_evidence: OMIM 275630
          Curator_confirmed: WBPerson324
          Date_last_updated: 30 Jun 2015 00:00:00
    Potential_model: DOID:0060656 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:21396)
      DOID:234 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:21396)
      DOID:0050729 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:21396)
    Disease_relevance: Mutations in human ABHD5 (Chanarin-Dorfman Syndrome (Neutral liped storage disease) is a rare metabolic disease caused by a failure in lipid breakdown and abnormal lipid accumulation in tissues and organs; this condition is characterized by dry, scaly skin (ichthyosis), other characteristics include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), and mild intellectual disability; ABHD5 functions as a coactivator of adipocyte triglyceride lipase (ATGL); in C. elegans reducing the levels of one of the orthologs of ABHD5, cgi-58, enhances the survival of AMPK (AMP-activated kinase) deficient dauer larvae; cgi-58 physically interacts with ATGL-1 in vivo and affects it''s localization on lipid droplets, cgi-58 also affects lipid droplet size; cgi-58 also prevents lipid droplet fusion independently of ATGL, indicating it has ATGL-1 independent cellular functions; this function is conserved in higher animals as well, as demonstrated in CGI-58-deficient mouse embryonic fibroblasts, suggesting that CGI-58 may play an evolutionarily conserved role in restricting lipid droplet encounters and coalescence across species. Homo sapiens Paper_evidence: WBPaper00046951
          Accession_evidence: OMIM 275630
              604780
          Curator_confirmed: WBPerson324
          Date_last_updated: 08 Sep 2015 00:00:00
  Models_disease_in_annotation: WBDOannot00000349
  Molecular_info: Corresponding_CDS: C37H5.3a
      C37H5.3b
    Corresponding_transcript: C37H5.3a.1
      C37H5.3b.1
    Other_sequence (14)
    Associated_feature: WBsf646778
      WBsf661241
      WBsf981928
      WBsf1019561
      WBsf231701
      WBsf231702
  Experimental_info: RNAi_result: WBRNAi00042125 Inferred_automatically: RNAi_primary
      WBRNAi00011734 Inferred_automatically: RNAi_primary
      WBRNAi00097949 Inferred_automatically: RNAi_primary
      WBRNAi00029649 Inferred_automatically: RNAi_primary
      WBRNAi00023082 Inferred_automatically: RNAi_primary
      WBRNAi00023673 Inferred_automatically: RNAi_primary
      WBRNAi00023161 Inferred_automatically: RNAi_primary
      WBRNAi00078354 Inferred_automatically: RNAi_primary
      WBRNAi00023961 Inferred_automatically: RNAi_primary
      WBRNAi00011731 Inferred_automatically: RNAi_primary
    Expr_pattern: Expr12397
      Expr1023309
      Expr1037078
      Expr1146126
      Expr2009091
      Expr2027327
    Drives_construct: WBCnstr00021003
      WBCnstr00028009
    Construct_product: WBCnstr00021003
      WBCnstr00028009
    Microarray_results (27)
    Expression_cluster (164)
    Interaction (65)
  Map_info: Map: V Position: -4.04252
    Positive: Positive_clone: C37H5 Inferred_automatically: From sequence, transcript, pseudogene data
    Pseudo_map_position
  Reference: WBPaper00038491
    WBPaper00046951
    WBPaper00050547
    WBPaper00055090
    WBPaper00060484
  Remark: Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. CGC_data_submission
  Method: Gene